Phosphatidylinositolglycan, class M deficiency (Q100780): Difference between revisions
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Trata-se de enzima que em humanos é codificada pelo gene PIGA. Este gene codifica uma proteína necessária para a síntese de N-acetilglicosaminil fosfatidilinositol (GlcNAc-PI), o primeiro intermediário na via biossintética da âncora GPI. A âncora GPI é um glicolipídeo encontrado em muitas células sanguíneas e serve para ancorar proteínas na superfície celular. Na afecção hemoglobinúria paroxística noturna, um distúrbio hematológico adquirido, _x000D_ é causada por mutações nesse gene. Variantes do splice alternativo foram caracterizadas. | |||
| description / en | description / en | ||
This refers to an enzyme that in humans is encoded by the PIGA gene. This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder, has been shown to result from mutations in this gene. Alternate splice variants have been characterised. | |||
Revision as of 17:32, 16 August 2026
This refers to an enzyme that in humans is encoded by the PIGA gene. This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder, has been shown to result from mutations in this gene. Alternate splice variants have been characterised.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1951173236 |
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| English | Phosphatidylinositolglycan, class M deficiency |
This refers to an enzyme that in humans is encoded by the PIGA gene. This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder, has been shown to result from mutations in this gene. Alternate splice variants have been characterised. |
